Canonical Allele Identifier: CA2742482491

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847388dup , CM000663.2:g.11847388dup	GRCh38
NC_000001.10:g.11907445dup , CM000663.1:g.11907445dup	GRCh37
NC_000001.9:g.11830032dup	NCBI36
NG_012926.1:g.5400dup , LRG_751:g.5400dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-189dup (CLCN6)	ENSP00000496938.1:n.*1962-189dup
ENST00000446542.5:n.782-46dup (NPPA-AS1)
ENST00000376476.1:c.29dup (NPPA)	ENSP00000365659.1:p.Gln11ThrfsTer5
ENST00000376480.7:c.179dup (NPPA) MANE Select	ENSP00000365663.3:p.Gln61ThrfsTer5
ENST00000610706.1:c.179dup (NPPA)	ENSP00000483195.1:p.Gln61ThrfsTer5
NM_006172.3:c.179dup , LRG_751t1:c.179dup (NPPA)	NP_006163.1:p.Gln61ThrfsTer5
NR_037806.1:n.1480-46dup (NPPA-AS1)
NM_006172.4:c.179dup (NPPA) MANE Select	NP_006163.1:p.Gln61ThrfsTer5